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  1. 1. A Drosophila Disease-Model for Transthyretin-associated Amyloidosis

    Författare :Malgorzata Pokrzywa; Erik Lundgren; Damian Crowther; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; transthyretin; amyloid; amyloidosis; Drosophila; transthyretin-associated amyloidosis; Familial amyloid polyneuropathy; neurodegeneration; serum amyloid P component; Non-steroidal Anti-Inflammatory Drugs; drug screens; Molecular biology; Molekylärbiologi;

    Sammanfattning : Amyloidoses comprise a group of gain-of-toxic function protein misfolding diseases, in which normally soluble proteins in their functional state undergo conformational changes into highly organized and generally intractable thread-like aggregates, termed amyloid fibrils. These structures accumulate predominantly in the extracellular space but growing evidence suggests that amyloids may start to form intracellularly. LÄS MER

  3. 2. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

    Författare :Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

    Sammanfattning : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. LÄS MER

  4. 3. The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition

    Författare :Björn Pilebro; Ole Suhr; Henning Mölgaard; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloidosis; Transthyretin; Cardiomyopathy; Echocardiography; Scintigraphy; Positron emission tomography; cardiovascular disease; hjärt- och kärlforskning; kardiologi; Cardiology; Clinical Physiology; klinisk fysiologi;

    Sammanfattning : Background Hereditary transthyretin amyloid (ATTRm) amyloidosis is a systemic disease mainly affecting the peripheral nervous system and the heart. The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. LÄS MER

  5. 4. Transthyretin and the transthyretin-related protein: A structural study

    Författare :Erik Lundberg; A. Elisabeth Sauer-Eriksson; Lennart Sjölin; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Transthyretin; Transthyretin-related protein; X-ray crystallography; Protein structure; Amyloidosis; Structural biology; Strukturbiologi;

    Sammanfattning : Transthyretin (TTR) is one of several proteins involved in amyloid disease in humans. Unknown conformational changes of the native state of TTR result in aggregation of TTR molecules into amyloid fibrils, which accumulate in extracellular tissues. This may result in different clinical symptoms, e.g. LÄS MER

  7. 5. AL amyloidosis : Study of epidemiology, diagnosis and treatment with emphasis on heart involvement

    Författare :Sara Rosengren; Kristina Carlson; Jens Sörensen; Stefan Schönland; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; immunoglobulin light chain AL amyloidosis; high-dose melphalan; cardiac amyloidosis; positron emission tomography PET ; incidence; population-based; Medicinsk vetenskap; Medical Science;

    Sammanfattning : AL (immunoglobulin light chain) amyloidosis is often associated with delayed diagnosis and thereby high early mortality that is not overcome by contemporary treatment. There is a need for diagnostic methods promoting earlier diagnosis, especially in patients with cardiac involvement. LÄS MER